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Table 2 Bone marrow morphology, karyotype, chromosome breakage tests, and ALDH2 genotypes

From: Comprehensive analysis on phenotype and genetic basis of Chinese Fanconi anemia patients: dismal outcomes call for nationwide studies

Case No.BM morphologyBM karyotypeChromosome breakage testALDH2 genotype
1DysplasiaNAPositiveG/A
2Dysplasia47,XY,+ 15[1]/46,XY[20]PositiveG/A
3HypoplasianormalPositiveG/A
4NANAPositiveG/G
5aAML46,XX,der(7)t(1;7)(q21;q36)[20]PositiveG/G
6HypoplasiaNormalPositiveG/A
7Dysplasia46,XY,-7,+ 21[5]/46,XY[16]PositiveG/G
8HypoplasiaNormalPositiveG/G
9HypoplasiaNormalPositiveG/A
10bMDSComplexPositiveG/G
11HypoplasiaNormalPositiveG/A
12DysplasiaNormalPositiveG/G
13DysplasiaNormalPositiveG/G
14DysplasiaNormalPositiveG/A
15Dysplasia46,XY,del(7)(p13)[13]/46,XY[7]PositiveG/A
16HypoplasiaNormalPositiveG/A
17DysplasiaNormalPositiveG/A
18Dysplasia46,XX,t(1;5)(p36.1;q13)[1]/46,XX[19]PositiveG/G
19Dysplasia46,XX,del(14)(q24)[1]/46,XX[20]PositiveG/G
20Dysplasia46,XX,del(7)(q22)[8]/46,XX,del(5)(p11)/46,XX[19]PositiveG/A
21HypoplasiaNormalPositiveG/A
  1. Chromosome breakage tests were induced by mitomycin C
  2. NA not available, AML acute myeloid leukemia, MDS myelodysplastic syndrome
  3. aCase 5 is diagnosed as acute myeloid leukemia. The myeloblasts count 41% of the nucleated cells according to morphologic test of bone marrow smears
  4. bCase 10 is diagnosed as myelodysplastic syndrome. His bone marrow morphology shows dysplasia was observed in his granulocytic lineage and megakaryocytic lineage with the myeloblasts count 6% of the nucleated cells. The result of his karyotype is:46,XY,dup(1)(q21q23),add(2)(p11.2),add(3)(q27),der(5)t(1;5)(q21;q35),add(20)(p12)[17]/45,XY,der(1)(?::1q42- > 1q21::1p36.3- > 1q32::1q21- > 1q44::?),add(2)(p11.2),add(3)(q27),add(4)(p16),der(5)t(1;5)(q21;q35),-18,add(20)(p12),ace [2]/46,XY [1]